"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RAG2"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 949466	NM_000536.4(RAG2):c.1290G>A (p.Trp430Ter)	RAG2 (W430*)	Single nucleotide variant (nonsense)	Combined immunodeficiency with skin granulomas +2 more	GLikely pathogenic
Select item 1075544	NM_000536.4(RAG2):c.829dup (p.Tyr277fs)	RAG2 (Y277fs)	Duplication (frameshift variant)	Recombinase activating gene 2 deficiency	GPathogenic FDA Recognized database
Select item 845488	NM_000536.4(RAG2):c.733C>T (p.Pro245Ser)	RAG2 (P245S)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
Select item 1339534	NM_000536.4(RAG2):c.475C>T (p.Arg159Cys)	RAG2 (R159C)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +3 more	GPathogenic/Likely pathogenic
Select item 304556	NM_000536.4(RAG2):c.368G>A (p.Arg123His)	RAG2 (R123H)	Single nucleotide variant (missense variant)	Combined immunodeficiency with skin granulomas +2 more	GUncertain significance
Select item 427020	NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)	RAG2 (D65Y)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GLikely pathogenic FDA Recognized database
Select item 879522	NM_000536.4(RAG2):c.74A>G (p.Asp25Gly)	RAG2 (D25G)	Single nucleotide variant (missense variant)	Recombinase activating gene 2 deficiency	GUncertain significance FDA Recognized database

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